ClinVar Miner

List of variants in gene CTPS1 studied for T+ B+ severe combined immunodeficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 223
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001905.4(CTPS1):c.1547-32A>G rs12144160 0.46857
NM_001905.4(CTPS1):c.1094+14G>A rs12718433 0.40636
NM_001905.4(CTPS1):c.1449+14C>G rs35044078 0.09978
NM_001905.4(CTPS1):c.1006-19_1006-18del rs140062309 0.07392
NM_001905.4(CTPS1):c.556-16T>G rs116700741 0.02074
NM_001905.4(CTPS1):c.501A>G (p.Gln167=) rs5030799 0.01984
NM_001905.4(CTPS1):c.1617A>G (p.Pro539=) rs138555227 0.00400
NM_001905.4(CTPS1):c.570G>A (p.Gly190=) rs116134285 0.00296
NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala) rs139322260 0.00151
NM_001905.4(CTPS1):c.1590G>C (p.Leu530=) rs140798858 0.00144
NM_001905.4(CTPS1):c.1191C>T (p.Gly397=) rs150821317 0.00084
NM_001905.4(CTPS1):c.312A>G (p.Gly104=) rs150868456 0.00078
NM_001905.4(CTPS1):c.1281G>A (p.Thr427=) rs145143197 0.00049
NM_001905.4(CTPS1):c.1411G>A (p.Ala471Thr) rs374862639 0.00027
NM_001905.4(CTPS1):c.1488C>T (p.Gly496=) rs201824063 0.00021
NM_001905.4(CTPS1):c.1500T>C (p.Val500=) rs34761170 0.00015
NM_001905.4(CTPS1):c.1692-1G>C rs145092287 0.00015
NM_001905.4(CTPS1):c.1252+7G>A rs371135580 0.00013
NM_001905.4(CTPS1):c.1152A>G (p.Ala384=) rs138406396 0.00012
NM_001905.4(CTPS1):c.556-16_556-15insG rs572312351 0.00012
NM_001905.4(CTPS1):c.1649G>A (p.Arg550Gln) rs776186929 0.00011
NM_001905.4(CTPS1):c.1691+7G>A rs186753161 0.00011
NM_001905.4(CTPS1):c.337+16C>T rs374103645 0.00011
NM_001905.4(CTPS1):c.1394-15C>T rs778949972 0.00009
NM_001905.4(CTPS1):c.1546+10C>T rs371297328 0.00009
NM_001905.4(CTPS1):c.525T>C (p.Phe175=) rs370799321 0.00009
NM_001905.4(CTPS1):c.456G>T (p.Gly152=) rs376161790 0.00008
NM_001905.4(CTPS1):c.472C>T (p.Pro158Ser) rs140029453 0.00008
NM_001905.4(CTPS1):c.1065C>T (p.His355=) rs771600893 0.00006
NM_001905.4(CTPS1):c.1417T>C (p.Tyr473His) rs75669611 0.00006
NM_001905.4(CTPS1):c.1691+6C>T rs765397908 0.00006
NM_001905.4(CTPS1):c.1449+17G>C rs764406164 0.00004
NM_001905.4(CTPS1):c.337+14T>A rs752494489 0.00004
NM_001905.4(CTPS1):c.361A>G (p.Ile121Val) rs200274195 0.00004
NM_001905.4(CTPS1):c.386C>T (p.Ala129Val) rs143058120 0.00004
NM_001905.4(CTPS1):c.1087A>G (p.Ser363Gly) rs149054758 0.00003
NM_001905.4(CTPS1):c.167-5T>C rs754438957 0.00003
NM_001905.4(CTPS1):c.1769A>G (p.His590Arg) rs755468825 0.00003
NM_001905.4(CTPS1):c.242G>A (p.Arg81His) rs376970699 0.00003
NM_001905.4(CTPS1):c.480T>C (p.Ile160=) rs761028193 0.00003
NM_001905.4(CTPS1):c.721-6A>T rs754231014 0.00003
NM_001905.4(CTPS1):c.1040C>T (p.Ser347Leu) rs988433826 0.00002
NM_001905.4(CTPS1):c.1053C>T (p.Pro351=) rs746923692 0.00002
NM_001905.4(CTPS1):c.1235A>G (p.Asn412Ser) rs928104008 0.00002
NM_001905.4(CTPS1):c.1269G>A (p.Glu423=) rs780304885 0.00002
NM_001905.4(CTPS1):c.1294G>A (p.Val432Met) rs373379651 0.00002
NM_001905.4(CTPS1):c.1692-3C>T rs748205702 0.00002
NM_001905.4(CTPS1):c.1692G>A (p.Arg564=) rs201074432 0.00002
NM_001905.4(CTPS1):c.222T>C (p.Tyr74=) rs201994529 0.00002
NM_001905.4(CTPS1):c.439-6T>G rs369112285 0.00002
NM_001905.4(CTPS1):c.537C>T (p.His179=) rs765222988 0.00002
NM_001905.4(CTPS1):c.735C>T (p.His245=) rs776310492 0.00002
NM_001905.4(CTPS1):c.880C>T (p.Arg294Cys) rs372743741 0.00002
NM_001905.4(CTPS1):c.1009A>G (p.Ile337Val) rs140093917 0.00001
NM_001905.4(CTPS1):c.1054G>A (p.Val352Met) rs150289603 0.00001
NM_001905.4(CTPS1):c.1095-5T>G rs373984935 0.00001
NM_001905.4(CTPS1):c.1237G>A (p.Val413Met) rs778320711 0.00001
NM_001905.4(CTPS1):c.1280C>T (p.Thr427Met) rs768930904 0.00001
NM_001905.4(CTPS1):c.1293C>T (p.Pro431=) rs747981364 0.00001
NM_001905.4(CTPS1):c.1397A>G (p.Lys466Arg) rs962110557 0.00001
NM_001905.4(CTPS1):c.1403A>G (p.Tyr468Cys) rs144358815 0.00001
NM_001905.4(CTPS1):c.1650G>A (p.Arg550=) rs763233454 0.00001
NM_001905.4(CTPS1):c.1727C>G (p.Pro576Arg) rs149425488 0.00001
NM_001905.4(CTPS1):c.1734T>C (p.Ser578=) rs768984457 0.00001
NM_001905.4(CTPS1):c.221A>G (p.Tyr74Cys) rs751260098 0.00001
NM_001905.4(CTPS1):c.241C>T (p.Arg81Cys) rs748131892 0.00001
NM_001905.4(CTPS1):c.369G>A (p.Glu123=) rs749862542 0.00001
NM_001905.4(CTPS1):c.451G>A (p.Val151Met) rs372858150 0.00001
NM_001905.4(CTPS1):c.594G>A (p.Gln198=) rs977961427 0.00001
NM_001905.4(CTPS1):c.663A>G (p.Pro221=) rs1642617542 0.00001
NM_001905.4(CTPS1):c.721-20A>C rs986372152 0.00001
NM_001905.4(CTPS1):c.780A>G (p.Gln260=) rs201842917 0.00001
NM_001905.4(CTPS1):c.790G>T (p.Asp264Tyr) rs1484961348 0.00001
NM_001905.4(CTPS1):c.889G>A (p.Glu297Lys) rs746188198 0.00001
NM_001905.4(CTPS1):c.899C>G (p.Ser300Cys) rs201674363 0.00001
NM_001905.4(CTPS1):c.924G>A (p.Thr308=) rs201952022 0.00001
NM_001905.4(CTPS1):c.939C>G (p.Ser313=) rs1003752907 0.00001
NM_001905.4(CTPS1):c.98A>G (p.His33Arg) rs1288200124 0.00001
NM_001905.4(CTPS1):c.1005+6G>A rs2148406240
NM_001905.4(CTPS1):c.1006-19C>T
NM_001905.4(CTPS1):c.1007A>T (p.Tyr336Phe) rs1570970424
NM_001905.4(CTPS1):c.1019C>T (p.Ala340Val)
NM_001905.4(CTPS1):c.1020G>A (p.Ala340=)
NM_001905.4(CTPS1):c.1041G>T (p.Ser347=)
NM_001905.4(CTPS1):c.1057C>T (p.Arg353Cys) rs968928651
NM_001905.4(CTPS1):c.1060T>C (p.Tyr354His)
NM_001905.4(CTPS1):c.1094+10G>A
NM_001905.4(CTPS1):c.1094+5G>A
NM_001905.4(CTPS1):c.1094+9A>G
NM_001905.4(CTPS1):c.1095-6G>A
NM_001905.4(CTPS1):c.1098A>C (p.Gly366=)
NM_001905.4(CTPS1):c.1126C>A (p.Arg376=) rs1642919526
NM_001905.4(CTPS1):c.1132A>G (p.Thr378Ala)
NM_001905.4(CTPS1):c.115A>G (p.Ile39Val) rs2148385706
NM_001905.4(CTPS1):c.1166G>C (p.Arg389Pro) rs139001308
NM_001905.4(CTPS1):c.1186T>C (p.Leu396=)
NM_001905.4(CTPS1):c.1190-10del
NM_001905.4(CTPS1):c.1190-15C>T
NM_001905.4(CTPS1):c.1190-16T>C
NM_001905.4(CTPS1):c.1190-18T>A
NM_001905.4(CTPS1):c.1190-18T>C
NM_001905.4(CTPS1):c.1190-6T>C
NM_001905.4(CTPS1):c.1236C>T (p.Asn412=)
NM_001905.4(CTPS1):c.1252+11A>C
NM_001905.4(CTPS1):c.1253A>G (p.Asp418Gly) rs1643025028
NM_001905.4(CTPS1):c.1268A>G (p.Glu423Gly)
NM_001905.4(CTPS1):c.1274_1275delinsTT (p.Asp425Val) rs1643025482
NM_001905.4(CTPS1):c.1296+11T>G rs773324318
NM_001905.4(CTPS1):c.1296+12G>A
NM_001905.4(CTPS1):c.1296+15T>C
NM_001905.4(CTPS1):c.1296+3G>A
NM_001905.4(CTPS1):c.137A>G (p.Asp46Gly) rs757447163
NM_001905.4(CTPS1):c.1394-14G>A
NM_001905.4(CTPS1):c.1394-6del
NM_001905.4(CTPS1):c.1398A>C (p.Lys466Asn)
NM_001905.4(CTPS1):c.1398A>G (p.Lys466=) rs2148420426
NM_001905.4(CTPS1):c.1410C>T (p.Asp470=)
NM_001905.4(CTPS1):c.1432C>T (p.His478Tyr)
NM_001905.4(CTPS1):c.1434C>T (p.His478=)
NM_001905.4(CTPS1):c.1436G>T (p.Arg479Leu)
NM_001905.4(CTPS1):c.1449+11C>T
NM_001905.4(CTPS1):c.1449+3G>A
NM_001905.4(CTPS1):c.1450-14T>A
NM_001905.4(CTPS1):c.1450-18T>A rs2148420542
NM_001905.4(CTPS1):c.1450-4A>G rs2148420558
NM_001905.4(CTPS1):c.1459G>C (p.Val487Leu) rs1643098135
NM_001905.4(CTPS1):c.1461C>T (p.Val487=)
NM_001905.4(CTPS1):c.1469A>C (p.Lys490Thr)
NM_001905.4(CTPS1):c.1471T>G (p.Cys491Gly) rs2148420580
NM_001905.4(CTPS1):c.1473T>C (p.Cys491=)
NM_001905.4(CTPS1):c.1502G>C (p.Gly501Ala)
NM_001905.4(CTPS1):c.1546+11G>A
NM_001905.4(CTPS1):c.1547-15G>C rs1643114232
NM_001905.4(CTPS1):c.1547A>G (p.Asp516Gly)
NM_001905.4(CTPS1):c.1572G>A (p.Gln524=) rs374888417
NM_001905.4(CTPS1):c.1604A>G (p.Lys535Arg)
NM_001905.4(CTPS1):c.1610C>T (p.Ser537Phe)
NM_001905.4(CTPS1):c.1622T>C (p.Phe541Ser) rs2148421320
NM_001905.4(CTPS1):c.162G>A (p.Glu54=)
NM_001905.4(CTPS1):c.1658A>T (p.His553Leu)
NM_001905.4(CTPS1):c.166+15T>G
NM_001905.4(CTPS1):c.166+7dup rs2148385754
NM_001905.4(CTPS1):c.1668G>A (p.Gln556=)
NM_001905.4(CTPS1):c.167-13C>T
NM_001905.4(CTPS1):c.167-15C>G
NM_001905.4(CTPS1):c.1674C>G (p.Gly558=)
NM_001905.4(CTPS1):c.1684T>C (p.Ser562Pro)
NM_001905.4(CTPS1):c.1695C>T (p.Asp565=)
NM_001905.4(CTPS1):c.1697C>T (p.Thr566Ile) rs1643134667
NM_001905.4(CTPS1):c.1725C>T (p.Ser575=) rs2148422076
NM_001905.4(CTPS1):c.1744G>A (p.Glu582Lys)
NM_001905.4(CTPS1):c.1755T>C (p.Phe585=) rs1570987022
NM_001905.4(CTPS1):c.1757del (p.Pro586fs)
NM_001905.4(CTPS1):c.191G>A (p.Gly64Asp)
NM_001905.4(CTPS1):c.198A>G (p.Glu66=)
NM_001905.4(CTPS1):c.262C>G (p.Leu88Val)
NM_001905.4(CTPS1):c.287A>G (p.Tyr96Cys) rs1642413763
NM_001905.4(CTPS1):c.297C>T (p.Asn99=) rs1553178673
NM_001905.4(CTPS1):c.304C>T (p.Arg102Trp)
NM_001905.4(CTPS1):c.305G>A (p.Arg102Gln)
NM_001905.4(CTPS1):c.309A>G (p.Lys103=) rs773103801
NM_001905.4(CTPS1):c.332T>C (p.Val111Ala)
NM_001905.4(CTPS1):c.336A>G (p.Gln112=) rs1642414869
NM_001905.4(CTPS1):c.337+10G>C
NM_001905.4(CTPS1):c.338-16G>A
NM_001905.4(CTPS1):c.342C>T (p.Val114=)
NM_001905.4(CTPS1):c.370T>G (p.Trp124Gly) rs1642483599
NM_001905.4(CTPS1):c.387G>A (p.Ala129=)
NM_001905.4(CTPS1):c.399A>T (p.Val133=)
NM_001905.4(CTPS1):c.411C>T (p.Gly137=)
NM_001905.4(CTPS1):c.434T>C (p.Ile145Thr)
NM_001905.4(CTPS1):c.438+14C>T
NM_001905.4(CTPS1):c.438+1G>A rs2148392127
NM_001905.4(CTPS1):c.438+20A>G
NM_001905.4(CTPS1):c.439-15A>C rs1642518522
NM_001905.4(CTPS1):c.439-17C>A
NM_001905.4(CTPS1):c.450C>T (p.Thr150=)
NM_001905.4(CTPS1):c.453G>C (p.Val151=)
NM_001905.4(CTPS1):c.454G>A (p.Gly152Arg)
NM_001905.4(CTPS1):c.456G>A (p.Gly152=)
NM_001905.4(CTPS1):c.509T>G (p.Val170Gly)
NM_001905.4(CTPS1):c.555+11C>T
NM_001905.4(CTPS1):c.555+12A>G
NM_001905.4(CTPS1):c.555+15G>A
NM_001905.4(CTPS1):c.555+5G>A rs1292013147
NM_001905.4(CTPS1):c.555G>A (p.Gln185=)
NM_001905.4(CTPS1):c.555_555+997del
NM_001905.4(CTPS1):c.556-14_556-10dup
NM_001905.4(CTPS1):c.556-7G>A
NM_001905.4(CTPS1):c.556-9G>T rs200737909
NM_001905.4(CTPS1):c.561T>C (p.Ser187=)
NM_001905.4(CTPS1):c.568G>A (p.Gly190Arg)
NM_001905.4(CTPS1):c.584A>C (p.Lys195Thr) rs2148397688
NM_001905.4(CTPS1):c.586C>T (p.Pro196Ser) rs1642600970
NM_001905.4(CTPS1):c.607G>C (p.Glu203Gln) rs1433781145
NM_001905.4(CTPS1):c.609A>G (p.Glu203=)
NM_001905.4(CTPS1):c.636T>A (p.Asp212Glu) rs1558142847
NM_001905.4(CTPS1):c.640-12C>G
NM_001905.4(CTPS1):c.640-15G>T
NM_001905.4(CTPS1):c.640-5G>A rs1450416670
NM_001905.4(CTPS1):c.666T>C (p.Leu222=)
NM_001905.4(CTPS1):c.675A>G (p.Ser225=)
NM_001905.4(CTPS1):c.693A>G (p.Ser231=)
NM_001905.4(CTPS1):c.711G>A (p.Glu237=)
NM_001905.4(CTPS1):c.720+10A>C
NM_001905.4(CTPS1):c.720+17A>G
NM_001905.4(CTPS1):c.720+1G>A rs1381936067
NM_001905.4(CTPS1):c.732C>T (p.Val244=)
NM_001905.4(CTPS1):c.752A>G (p.Tyr251Cys) rs2148404103
NM_001905.4(CTPS1):c.81C>T (p.Leu27=)
NM_001905.4(CTPS1):c.820A>G (p.Ile274Val)
NM_001905.4(CTPS1):c.821T>C (p.Ile274Thr)
NM_001905.4(CTPS1):c.872+12A>G
NM_001905.4(CTPS1):c.872+4T>A
NM_001905.4(CTPS1):c.873-3T>C
NM_001905.4(CTPS1):c.881G>A (p.Arg294His)
NM_001905.4(CTPS1):c.900T>C (p.Ser300=) rs776135557
NM_001905.4(CTPS1):c.936C>T (p.Asp312=) rs1020095716
NM_001905.4(CTPS1):c.945C>G (p.Ala315=)
NM_001905.4(CTPS1):c.963G>A (p.Leu321=)
NM_001905.4(CTPS1):c.988C>A (p.His330Asn) rs1553180295
NM_001905.4(CTPS1):c.98A>T (p.His33Leu)
NM_001905.4(CTPS1):c.99T>C (p.His33=)

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